M

 

Maffucci sendromu (multipl enchondromatosis-hemangiomata)

Spontan (gen mutasyonu)

Çocuk doğumda normal

Lezyonlar 12 yaşında belirmeye başlar

Kemiklerde asimetrik multipl enkondromlar (enkondromatozis)

Ekstremitelerde (ellerde, ayaklarda) daha yoğun

Enkondromlara bitişik kemik hemangiomları

Deri, mukoza ve iç organlarda üzüm salkımı hemangiomlar

Flebolitler

Lenfangiomlar

Periodontal patolojiler

Kireçlenme bozukluğuna bağlı gelişme geriliği

Kırıklar

Kemik deformasyonları

Enkondromlardan kondrosarkom gelişmesi

Yüksek kanser riski (beyin, pankreas ve ovaryum)

 

  • Cohen MM Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 117C(1):49–56, 2003

  • Favus MJ, American Society for Bone and Mineral Research. Primer on the metabolic bone diseases and disorders of mineral metabolism. 6th ed. Washington, DC: American Society for Bone and Mineral Research, 2006

  • Verdegaal SH, Bovée JV, Pansuriya TC, et al. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist, 16(12):1771-1779, 2011

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • Ngai C, Ding DY, Rapp TB. Maffucci Syndrome. An Interesting Case and a Review of the Literature. Bulletin of the Hospital for Joint Disease (2013), 73(4):282-285, 2015

  • Edmondson AC, Kalish JM. Overgrowth Syndromes. Journal of Pediatric Genetics, 4:136–143, 2015